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.M290insFs

c.870dupG

Surrounding Variants

3 papers

NM_001354604.2

p.A399T

c.1195G>A

1 paper

NM_001184967.2

p.A341insFs

c.1023dupT

1 paper

NM_001354604.2

p.L395insFs

c.1183_1184insG

1 paper

NM_001354604.2

p.E394D

c.1182A>C

1 paper

NM_000248.4

p.E287E

c.861A>G

1 paper

NM_001354604.2

p.E394D

c.1182A>T

1 paper

NM_001184967.2

p.R342insFs

c.1024_1025insG

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.R342insFs

c.1026dupA

1 paper

NM_000248.4

p.E287K

c.859G>A

2 papers

NM_000248.4

p.E287*

c.859G>T

3 papers

NM_001354605.2

p.Q392_E393Splc

c.1177-1G>A

NM_000248.4

p.Q286_E287Splc

c.859-1G>A