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

8 papers

NM_000179.3

p.S541R

c.1623C>G

Surrounding Variants

8 papers

NM_000179.3

p.S541R

c.1623C>A

1 paper

NM_000179.3

p.L542I

c.1624C>A

10 papers

NM_000179.3

p.S541R

c.1621A>C

6 papers

NM_000179.3

p.S541G

c.1621A>G

3 papers

NM_000179.3

p.K543delFs

c.1628_1629delAA

3 papers

NM_000179.3

p.K543_E544delFs

c.1627_1630del4

1 paper

NM_000179.3

p.E544_E546del0

c.1632_1637del6

2 papers

NM_000179.3

p.K543fs

c.1627_1628fs

1 paper

NM_000179.3

p.K543E

c.1627A>G

1 paper

NM_000179.3

p.K543T

c.1628A>C

1 paper

NM_000179.3

p.K543R

c.1628A>G

1 paper

NM_000179.3

p.L540fs

c.1618_1619fs