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

1–12 of 820 variants

32 papers

NM_000248.4

p.E318K

c.952G>A

20 papers

NM_001354604.2

p.E425K

c.1273G>A

19 papers

NM_001354604.2

p.V92M

c.274G>A

14 papers

NM_001354604.2

p.R217del1

c.649_650delCGA

14 papers

NM_000248.4

p.R214_R215del1

c.641_643delGAA

10 papers

NM_001354604.2

p.Q61R

c.182A>G

10 papers

NM_000248.4

p.R217I

c.650G>T

10 papers

NM_001354604.2

p.M519V

c.1555A>G

9 papers

NM_001354604.2

p.Q61L

c.182A>T

7 papers

NM_001354604.2

p.Q61K

c.181C>A

6 papers

NM_001354604.2

p.Q61H

c.183G>C

6 papers

NM_001354604.2

p.Q61H

c.183G>T