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

2 papers

NM_000248.4

p.E213delFs

c.639delA

Surrounding Variants

2 papers

NM_000248.4

p.E213Q

c.637G>C

1 paper

NM_000248.4

p.E213G

c.638A>G

1 paper

NM_001354604.2

p.I319M

c.957T>G

1 paper

NM_198159.3

p.E314_R315del2

c.940_944del6

1 paper

NM_001354604.2

p.R321insFs

c.961_962insC

3 papers

NM_000248.4

p.E213D

c.639A>C

3 papers

NM_000248.4

p.E213D

c.639A>T

1 paper

NM_000248.4

p.I212S

c.635T>G

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_000248.4

p.I212Splc

c.635-1G>A

2 papers

NM_000248.4

p.R214Q

c.641G>A

NM_001354604.2

p.R321Q

c.962G>A