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.S414A

c.1240T>G

Surrounding Variants

2 papers

NM_001354604.2

p.C413Y

c.1238G>A

1 paper

NM_001354604.2

p.P415L

c.1244C>T

1 paper

NM_001354604.2

p.L412insFs

c.1236dupC

1 paper

NM_001354604.2

p.L412F

c.1234C>T

1 paper

NM_001354604.2

p.G411insFs

c.1232_1233ins5

1 paper

NM_001354604.2

p.L417insFs

c.1250_1251ins5

10 papers

NM_001354604.2

p.T410T

c.1230G>A

NM_000248.4

p.T303T

c.909G>A

NM_198159.3

p.T404T

c.1212G>A

1 paper

NM_198178.3

p.T241insFs

c.723dupG

1 paper

NM_001354604.2

p.T410M

c.1229C>T

1 paper

NM_001354604.2

p.T410S

c.1228A>T

1 paper

NM_001354604.2

p.T410fs

c.1228_1229fs

1 paper

NM_001354604.2

p.V418M

c.1252G>A