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.S321delFs

c.961delT

Surrounding Variants

1 paper

NM_000179.3

p.P320L

c.959C>T

1 paper

NM_000179.3

p.P320T

c.958C>A

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

1 paper

NM_000179.3

p.P320fs

c.958_959fs

1 paper

NM_000179.3

p.S321_A322del2

c.961_965del6

1 paper

NM_000179.3

p.S321S

c.963A>G

2 papers

NM_000179.3

p.T319T

c.957G>A

1 paper

NM_000179.3

p.T319insFs

c.956_957insA

2 papers

NM_000179.3

p.T319M

c.956C>T

1 paper

NM_000179.3

p.A322P

c.964G>C