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

4 papers

NM_000179.3

p.S314R

c.942C>G

Surrounding Variants

4 papers

NM_000179.3

p.S314R

c.942C>A

1 paper

NM_000179.3

p.S314I

c.941G>T

1 paper

NM_000179.3

p.S314_S315delFs

c.942_945del4

1 paper

NM_000179.3

p.S314fs

c.940_941fs

4 papers

NM_000179.3

p.S314R

c.940A>C

1 paper

NM_000179.3

p.S314C

c.940A>T

4 papers

NM_000179.3

p.S315C

c.944C>G

4 papers

NM_000179.3

p.S315F

c.944C>T

1 paper

NM_001281492.2

p.S185_S191delFs

c.555_573del19

1 paper

NM_000179.3

p.S315S

c.945T>C

1 paper

NM_000179.3

p.R316delFs

c.946delA

1 paper

NM_000179.3

p.R316delFs

c.946_947delAG