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.G685S

c.2053G>A

Surrounding Variants

1 paper

NM_000179.3

p.G685fs

c.2053_2054fs

1 paper

NM_000179.3

p.G685_G686ins4

c.2053_2057ins12

1 paper

NM_001281492.2

p.G556_V558del0

c.1667_1672del6

2 papers

NM_000179.3

p.G685D

c.2054G>A

1 paper

NM_000179.3

p.G685A

c.2054G>C

1 paper

NM_001281492.2

p.L554_K563del0

c.1662_1688del27

1 paper

NM_000179.3

p.L684fs

c.2050_2051fs

1 paper

NM_000179.3

p.L684V

c.2050C>G

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