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.H402D

c.1204C>G

Surrounding Variants

1 paper

NM_198159.3

p.G397delFs

c.1190delG

1 paper

NM_000248.4

p.A294P

c.880G>C

1 paper

NM_001354604.2

p.A401S

c.1201G>T

1 paper

NM_198158.3

p.G290insFs

c.870dupA

1 paper

NM_001354604.2

p.G403delFs

c.1209delA

1 paper

NM_001184967.2

p.R342insFs

c.1026dupA

1 paper

NM_001184967.2

p.R342insFs

c.1024_1025insG

1 paper

NM_198178.3

p.L235insFs

c.705dupT

10 papers

NM_000248.4

p.R293*

c.877C>T

NM_001354604.2

p.R400*

c.1198C>T

NM_198159.3

p.R394*

c.1180C>T

1 paper

NM_001184967.2

p.A341insFs

c.1023dupT

3 papers

NM_001354604.2

p.A399T

c.1195G>A

4 papers

NM_001354604.2

p.S405P

c.1213T>C

NM_000248.4

p.S298P

c.892T>C