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_000248.4

p.S397A

c.1189T>G

Surrounding Variants

1 paper

NM_001354604.2

p.S502L

c.1505C>T

3 papers

NM_000248.4

p.G399R

c.1195G>A

NM_001354604.2

p.G506R

c.1516G>A

2 papers

NM_000248.4

p.G399R

c.1195G>C

NM_001354604.2

p.G506R

c.1516G>C

1 paper

NM_000248.4

p.S395insFs

c.1183_1184insG

1 paper

NM_001354604.2

p.G506E

c.1517G>A

1 paper

NM_000248.4

p.S394Y

c.1181C>A

1 paper

NM_000248.4

p.A400S

c.1198G>T

1 paper

NM_198178.3

p.S332insFs

c.996dupC

1 paper

NM_000248.4

p.S401A

c.1201T>G

1 paper

NM_198159.3

p.S502F

c.1505C>T

1 paper

NM_001354604.2

p.K509_R514insFs

c.1525_1540dup16

1 paper

NM_001354604.2

p.L499delFs

c.1497delC