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.K423M

c.1268A>T

Surrounding Variants

1 paper

NM_000248.4

p.K316R

c.947A>G

1 paper

NM_000248.4

p.Q317insFs

c.951dupA

56 papers

NM_000248.4

p.E318K

c.952G>A

NM_001354604.2

p.E425K

c.1273G>A

NM_198159.3

p.E419K

c.1255G>A

2 papers

NM_001354604.2

p.E425*

c.1273G>T

NM_000248.4

p.E318*

c.952G>T

2 papers

NM_001354604.2

p.R420R

c.1260G>C

2 papers

NM_000248.4

p.I315_K316del1

c.944_946delTCA

2 papers

NM_000248.4

p.V320I

c.958G>A

NM_001354604.2

p.V427I

c.1279G>A

1 paper

NM_000248.4

p.V320A

c.959T>C

1 paper

NM_001354604.2

p.L428_C431delFs

c.1284_1291del8

1 paper

NM_001354604.2

p.N419delFs

c.1255delA

1 paper

NM_001354604.2

p.V418M

c.1252G>A

1 paper

NM_001354604.2

p.E429insFs

c.1285_1286insC