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_001184967.2

p.L348insFs

c.1044dupT

Surrounding Variants

2 papers

NM_001354604.2

p.L406F

c.1216C>T

2 papers

NM_000248.4

p.S298S

c.894C>A

NM_001354604.2

p.S405S

c.1215C>A

1 paper

NM_000248.4

p.I300V

c.898A>G

4 papers

NM_001354604.2

p.S405P

c.1213T>C

NM_000248.4

p.S298P

c.892T>C

3 papers

NM_001354604.2

p.S405A

c.1213T>G

1 paper

NM_198178.3

p.L235insFs

c.705dupT

1 paper

NM_198158.3

p.G290insFs

c.870dupA

1 paper

NM_001354604.2

p.G403delFs

c.1209delA

6 papers

NM_001354604.2

p.S409A

c.1225T>G

1 paper

NM_001354604.2

p.S409F

c.1226C>T

1 paper

NM_198159.3

p.G397delFs

c.1190delG

1 paper

NM_001354604.2

p.T410S

c.1228A>T