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.K317E

c.949A>G

Surrounding Variants

1 paper

NM_001281492.2

p.K187delFs

c.559delA

1 paper

NM_001281492.2

p.K187_T189delFs

c.559_565del7

1 paper

NM_001281492.2

p.K187_A192del0

c.559_576del18

3 papers

NM_000179.3

p.R316K

c.947G>A

1 paper

NM_000179.3

p.K317K

c.951G>A

1 paper

NM_000179.3

p.R316T

c.947G>C

1 paper

NM_000179.3

p.E318_S321delFs

c.952_962del11

1 paper

NM_000179.3

p.R316R

c.946A>C

1 paper

NM_001281492.2

p.R186_E188del0

c.557_562del6

8 papers

NM_000179.3

p.E318K

c.952G>A

1 paper

NM_000179.3

p.E318fs

c.952_953fs

1 paper

NM_000179.3

p.E318*

c.952G>T