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.V509del1

c.1525_1527delGTG

Surrounding Variants

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

2 papers

NM_000179.3

p.R507fs

c.1519_1520fs

2 papers

NM_000179.3

p.V508E

c.1523T>A

1 paper

NM_000179.3

p.V508A

c.1523T>C

7 papers

NM_000179.3

p.R507insFs

c.1519dupA

1 paper

NM_001281492.2

p.R377delFs

c.1129_1130delAG

1 paper

NM_000179.3

p.D506A

c.1517A>C

2 papers

NM_000179.3

p.V509M

c.1525G>A

1 paper

NM_000179.3

p.D506N

c.1516G>A

3 papers

NM_000179.3

p.D506Y

c.1516G>T

1 paper

NM_000179.3

p.D506delFs

c.1517_1518delAT