Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000179.3

p.A555V

c.1664C>T

Surrounding Variants

1 paper

NM_000179.3

p.A555delFs

c.1665delA

2 papers

NM_000179.3

p.A555T

c.1663G>A

5 papers

NM_000179.3

p.Y556H

c.1666T>C

1 paper

NM_000179.3

p.Y556insFs

c.1667_1668insA

1 paper

NM_000179.3

p.Y556_V558del0

c.1667_1672del6

1 paper

NM_000179.3

p.Y556_V561del0

c.1667_1681del15

1 paper

NM_000179.3

p.G557_D562del6

c.1669_1685del18

2 papers

NM_000179.3

p.Y556C

c.1667A>G

7 papers

NM_000179.3

p.Y556F

c.1667A>T

1 paper

NM_000179.3

p.Y556_G557del1

c.1668_1670delTGG

1 paper

NM_000179.3

p.Y556_F560del0

c.1668_1679del12

6 papers

NM_000179.3

p.R554H

c.1661G>A