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_001281492.2

p.C557_K562del6

c.1669_1685del18

Surrounding Variants

7 papers

NM_000179.3

p.V688delFs

c.2062_2063delGT

22 papers

NM_000179.3

p.G686D

c.2057G>A

1 paper

NM_001281492.2

p.G556_Y560del0

c.1668_1679del12

1 paper

NM_001281492.2

p.C557S

c.1669T>A

1 paper

NM_001281492.2

p.C557R

c.1669T>C

1 paper

NM_000179.3

p.C687fs

c.2059_2060fs

1 paper

NM_000179.3

p.C687Y

c.2060G>A

1 paper

NM_000179.3

p.G686fs

c.2056_2057fs

1 paper

NM_000179.3

p.G686C

c.2056G>T

1 paper

NM_001281492.2

p.G556_C557del1

c.1668_1670delTTG

2 papers

NM_000179.3

p.G686_C687Fs

c.2056_2060delinsCTTCTACCTCAAAAAFs

1 paper

NM_001281492.2

p.G556_L561del0

c.1667_1681del15