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

3 papers

NM_001354604.2

p.P103S

c.307C>T

Surrounding Variants

1 paper

NM_001354604.2

p.P103insFs

c.308_309insA

1 paper

NM_001354604.2

p.V102delFs

c.306delG

2 papers

NM_001354604.2

p.T105_A109delFs

c.313_326del14

1 paper

NM_001354604.2

p.S101R

c.303T>A

1 paper

NM_001354604.2

p.T104T

c.312C>T

1 paper

NM_001354604.2

p.S101I

c.302G>T

1 paper

NM_001354604.2

p.S101R

c.301A>C

1 paper

NM_001354604.2

p.V100V

c.300C>T

1 paper

NM_001354604.2

p.L106V

c.316C>G

1 paper

NM_001354604.2

p.V100I

c.298G>A

1 paper

NM_001354604.2

p.V100delFs

c.299_300delTC

1 paper

NM_001354604.2

p.N99K

c.297C>A