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.S216*

c.647C>G

Surrounding Variants

1 paper

NM_001354604.2

p.S216*

c.647C>A

1 paper

NM_001354604.2

p.S216delins

c.647_648delinsTT

14 papers

NM_001354604.2

p.R217del1

c.649_650delCGA

1 paper

NM_001354604.2

p.S216S

c.648A>C

1 paper

NM_001354604.2

p.R217delFs

c.649delC

1 paper

NM_000248.4

p.S109insFs

c.326dupC

1 paper

NM_000248.4

p.S109fs

c.325_326fs

1 paper

NM_001354604.2

p.S216_R217del1

c.647_649delCAC

5 papers

NM_001354604.2

p.R217G

c.649C>G

10 papers

NM_001354604.2

p.R217*

c.649C>T

NM_000248.4

p.R110*

c.328C>T

1 paper

NM_001354604.2

p.R217delFs

c.650delG

1 paper

NM_001354604.2

p.H215Q

c.645T>A