Varaico: Literature-Extracted Genetic Variants

MITF

812 papers

RefSeq Summary

The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is...

Pfam Domains

MITF_TFEB_C_3_Naa 7–91UCSCMITF/TFEB/TFEC/TFE3 N-terminus

MITF_TFEB_C_3_Naa 56–228UCSCMITF/TFEB/TFEC/TFE3 N-terminus

HLHaa 312–365UCSCHelix-loop-helix DNA-binding domain

DUF3371aa 397–522UCSCDomain of unknown function (DUF3371)

Gene Aliases

HGNC Name

melanocyte inducing transcription factor

HGNC Previous Symbols

WS2A; WS2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_198159.3

p.R316K

c.947G>A

Surrounding Variants

1 paper

NM_001354604.2

p.R323delFs

c.967delA

6 papers

NM_000248.4

p.R216K

c.647G>A

NM_198159.3

p.R317K

c.950G>A

2 papers

NM_000248.4

p.R214Q

c.641G>A

NM_001354604.2

p.R321Q

c.962G>A

1 paper

NM_198159.3

p.R317insFs

c.951dupA

1 paper

NM_198158.3

p.R210I

c.629G>T

2 papers

NM_000248.4

p.R217delFs

c.649delA

NM_001354604.2

p.R324delFs

c.970delA

1 paper

NM_001354604.2

p.R323_F325delFs

c.969_973del5

2 papers

NM_000248.4

p.R216S

c.648A>C

2 papers

NM_000248.4

p.R216S

c.648A>T

6 papers

NM_198159.3

p.R315*

c.943C>T

NM_000248.4

p.R214*

c.640C>T

NM_001354604.2

p.R321*

c.961C>T

21 papers

NM_001354604.2

p.R324del1

c.970_971delAGA

NM_000248.4

p.R214_R215del1

c.970_972delAGA

NM_198159.3

p.R217del1

c.641_643delGAA

1 paper

NM_001354604.2

p.R321insFs

c.961_962insC