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

2 papers

NM_001354604.2

p.M53I

c.159G>A

Surrounding Variants

2 papers

NM_001354604.2

p.M53I

c.159G>C

2 papers

NM_001354604.2

p.M53I

c.159G>T

1 paper

NM_001354604.2

p.S55A

c.163T>G

1 paper

NM_001354604.2

p.R56_I57insGCC

c.166_170ins9

1 paper

NM_001354604.2

p.R56H

c.167G>A

3 papers

NM_001354604.2

p.R56L

c.167G>T

1 paper

NM_001354604.2

p.S50C

c.149C>G

1 paper

NM_001354604.2

p.S50F

c.149C>T

1 paper

NM_001354604.2

p.I57M

c.171C>G

1 paper

NM_001354604.2

p.S49S

c.147C>T

1 paper

NM_001354604.2

p.I57I

c.171C>T

1 paper

NM_001354604.2

p.S49T

c.146G>C