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.Y471insFs

c.1412_1413insA

Surrounding Variants

1 paper

NM_001354604.2

p.A470V

c.1409C>T

1 paper

NM_198158.3

p.Q356*

c.1066C>T

1 paper

NM_001354604.2

p.Q469_Y471del3

c.1405_1412del9

1 paper

NM_001354604.2

p.K476delFs

c.1426delA

1 paper

NM_000248.4

p.K369insFs

c.1106_1107ins17

2 papers

NM_000248.4

p.E359K

c.1075G>A

1 paper

NM_001354604.2

p.M477_G478ins0

c.1431_1433dupGGG

1 paper

NM_001354604.2

p.G464E

c.1391G>A

1 paper

NM_000248.4

p.G355_T356ins11

c.1063_1067ins33

1 paper

NM_198158.3

p.L348insFs

c.1044dupC

5 papers

NM_000248.4

p.L354I

c.1060C>A

NM_198159.3

p.L455I

c.1363C>A

NM_001354604.2

p.L461I

c.1381C>A

1 paper

NM_198178.3

p.N291fs

c.871_872fs