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

2 papers

NM_000179.3

p.V509E

c.1526T>A

Surrounding Variants

24 papers

NM_000179.3

p.V509A

c.1526T>C

2 papers

NM_000179.3

p.V509M

c.1525G>A

3 papers

NM_000179.3

p.R510G

c.1528A>G

2 papers

NM_000179.3

p.V508E

c.1523T>A

1 paper

NM_000179.3

p.V508A

c.1523T>C

1 paper

NM_000179.3

p.R510S

c.1530G>C

1 paper

NM_000179.3

p.R510S

c.1530G>T

6 papers

NM_000179.3

p.R511G

c.1531A>G

1 paper

NM_000179.3

p.R511W

c.1531A>T

1 paper

NM_000179.3

p.V509del1

c.1525_1527delGTG

5 papers

NM_001281492.2

p.R377fs

c.1129_1130fs

NM_000179.3

p.R507fs

c.1519_1520fs

1 paper

NM_000179.3

p.R507delFs

c.1520delG