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.S37A

c.109T>G

Surrounding Variants

1 paper

NM_001354604.2

p.S37Y

c.110C>A

4 papers

NM_001354604.2

p.S37F

c.110C>T

1 paper

NM_001354604.2

p.A38delFs

c.112_113delGC

1 paper

NM_001354604.2

p.A38_S44delFs

c.112_131del20

2 papers

NM_001354604.2

p.S36R

c.108T>A

2 papers

NM_001354604.2

p.S36R

c.108T>G

1 paper

NM_001354604.2

p.A38delFs

c.112delG

2 papers

NM_001354604.2

p.S36R

c.106A>C

1 paper

NM_001354604.2

p.A38P

c.112G>C

1 paper

NM_001354604.2

p.A38S

c.112G>T

2 papers

NM_001354604.2

p.E39K

c.115G>A

1 paper

NM_001354604.2

p.E39*

c.115G>T