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_000248.4

p.L341V

c.1021C>G

Surrounding Variants

2 papers

NM_000248.4

p.L341F

c.1021C>T

2 papers

NM_000248.4

p.L341fs

c.1021_1022fs

1 paper

NM_000248.4

p.L341insFs

c.1023dupC

1 paper

NM_000248.4

p.D342insFs

c.1024_1025insG

2 papers

NM_000248.4

p.L341delFs

c.1022_1023delTC

1 paper

NM_000248.4

p.D342insFs

c.1026dupT

1 paper

NM_001354604.2

p.T447delFs

c.1339delA

1 paper

NM_001354604.2

p.T445K

c.1334C>A

1 paper

NM_198158.3

p.T332insFs

c.996dupA

1 paper

NM_001354604.2

p.T451_G453insFs

c.1352_1359dup8

1 paper

NM_001354604.2

p.T451A

c.1351A>G

1 paper

NM_001354604.2

p.G453R

c.1357G>C