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

3 papers

NM_000179.3

p.T323S

c.968C>G

Surrounding Variants

1 paper

NM_000179.3

p.T323I

c.968C>T

2 papers

NM_000179.3

p.T323S

c.967A>T

3 papers

NM_000179.3

p.K324R

c.971A>G

1 paper

NM_000179.3

p.A322V

c.965C>T

1 paper

NM_000179.3

p.K324N

c.972A>C

1 paper

NM_000179.3

p.K324N

c.972A>T

1 paper

NM_000179.3

p.A322P

c.964G>C

1 paper

NM_000179.3

p.S321S

c.963A>G

5 papers

NM_001281492.2

p.Q195*

c.583C>T

NM_000179.3

p.Q325*

c.973C>T

1 paper

NM_000179.3

p.S321*

c.962C>A

1 paper

NM_000179.3

p.S321*

c.962C>G

1 paper

NM_000179.3

p.S321L

c.962C>T