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_198158.3

p.N317insFs

c.951dupC

Surrounding Variants

1 paper

NM_001354604.2

p.N430K

c.1290C>A

2 papers

NM_000248.4

p.C324insFs

c.970dupT

NM_001354604.2

p.C431insFs

c.1291dupT

1 paper

NM_001354604.2

p.N430K

c.1290C>G

1 paper

NM_001354604.2

p.C431fs

c.1291_1292fs

1 paper

NM_001354604.2

p.E429insFs

c.1285_1286insC

1 paper

NM_001354604.2

p.E429fs

c.1285_1286fs

1 paper

NM_000248.4

p.Q326insFs

c.978dupA

1 paper

NM_001354604.2

p.Q433fs

c.1297_1298fs

1 paper

NM_001354604.2

p.L428_C431delFs

c.1284_1291del8

1 paper

NM_001354604.2

p.Q433P

c.1298A>C

1 paper

NM_000248.4

p.V320A

c.959T>C

2 papers

NM_000248.4

p.V320I

c.958G>A

NM_001354604.2

p.V427I

c.1279G>A