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.L80V

c.238C>G

Surrounding Variants

1 paper

NM_001354604.2

p.K79K

c.237G>A

1 paper

NM_001354604.2

p.Q78K

c.232C>A

1 paper

NM_001354604.2

p.Q78E

c.232C>G

2 papers

NM_001354604.2

p.Q78*

c.232C>T

1 paper

NM_001354604.2

p.A82V

c.245C>T

1 paper

NM_001354604.2

p.Q77*

c.229C>T

2 papers

NM_001354604.2

p.A83V

c.248C>T

1 paper

NM_001354604.2

p.A83A

c.249C>A

4 papers

NM_001354604.2

p.Q84*

c.250C>T

1 paper

NM_001354604.2

p.Q84H

c.252G>C

1 paper

NM_001354604.2

p.F85Y

c.254T>A

1 paper

NM_001354604.2

p.R74T

c.221G>C