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_001354604.2

p.T525S

c.1574C>G

Surrounding Variants

1 paper

NM_198158.3

p.T412I

c.1235C>T

2 papers

NM_198159.3

p.T519A

c.1555A>G

1 paper

NM_001354604.2

p.C526Y

c.1577G>A

1 paper

NM_000248.4

p.*420Q

c.1258T>C

2 papers

NM_000248.4

p.*420Y

c.1260G>C

2 papers

NM_000248.4

p.*420Y

c.1260G>T

1 paper

NM_001354604.2

p.T522T

c.1566G>A

1 paper

NM_001354604.2

p.T522delFs

c.1565delC

1 paper

NM_000248.4

p.E413K

c.1237G>A

1 paper

NM_001354604.2

p.M519L

c.1555A>C

10 papers

NM_001354604.2

p.M519V

c.1555A>G

1 paper

NM_001354604.2

p.M519L

c.1555A>T