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_006722.3

p.R317insFs

c.951dupA

Surrounding Variants

2 papers

NM_001354604.2

p.R324K

c.971G>A

NM_000248.4

p.R217K

c.650G>A

1 paper

NM_000248.4

p.R217T

c.650G>C

10 papers

NM_000248.4

p.R217I

c.650G>T

1 paper

NM_000248.4

p.R217fs

c.649_650fs

1 paper

NM_001354604.2

p.R324S

c.972A>C

8 papers

NM_000248.4

p.R217G

c.649A>G

NM_198159.3

p.R318G

c.952A>G

NM_001354604.2

p.R324G

c.970A>G

1 paper

NM_001354604.2

p.R324S

c.972A>T

1 paper

NM_000248.4

p.R217fs

c.649_650fs

2 papers

NM_000248.4

p.R216S

c.648A>C

2 papers

NM_000248.4

p.R216S

c.648A>T

6 papers

NM_000248.4

p.R216K

c.647G>A

NM_198159.3

p.R317K

c.950G>A

1 paper

NM_198159.3

p.R317insFs

c.951dupA