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

2 papers

NM_000179.3

p.W912R

c.2734T>A

Surrounding Variants

3 papers

NM_000179.3

p.W912R

c.2734T>C

7 papers

NM_000179.3

p.W912*

c.2735G>A

5 papers

NM_000179.3

p.W912*

c.2736G>A

3 papers

NM_000179.3

p.R911Q

c.2732G>A

2 papers

NM_000179.3

p.R911L

c.2732G>T

75 papers

NM_000179.3

p.R911*

c.2731C>T

1 paper

NM_000179.3

p.R911fs

c.2731_2732fs

1 paper

NM_000179.3

p.D913_T914insFs

c.2739_2740dupTA

1 paper

NM_000179.3

p.D913fs

c.2737_2738fs

1 paper

NM_000179.3

p.D913D

c.2739T>C

2 papers

NM_000179.3

p.T914insFs

c.2740dupA

1 paper

NM_000179.3

p.T914ins1

c.2740_2741insATC