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.Q69*

c.205C>T

Surrounding Variants

3 papers

NM_001354604.2

p.E70K

c.208G>A

2 papers

NM_001354604.2

p.Q71*

c.211C>T

1 paper

NM_001354604.2

p.Q71R

c.212A>G

1 paper

NM_001354604.2

p.R73fs

c.217_218fs

1 paper

NM_001354604.2

p.M64I

c.192G>A

1 paper

NM_001354604.2

p.R73H

c.218G>A

1 paper

NM_001354604.2

p.M64I

c.192G>C

1 paper

NM_001354604.2

p.M64I

c.192G>T

1 paper

NM_001354604.2

p.R74T

c.221G>C

6 papers

NM_001354604.2

p.Q61H

c.183G>C

6 papers

NM_001354604.2

p.Q61H

c.183G>T

10 papers

NM_001354604.2

p.Q61R

c.182A>G