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.E52_A53Fs

c.155_159delinsCGCCAAFs

Surrounding Variants

1 paper

NM_000179.3

p.E52A

c.155A>C

1 paper

NM_000179.3

p.E52V

c.155A>T

3 papers

NM_000179.3

p.E52K

c.154G>A

1 paper

NM_000179.3

p.E52Q

c.154G>C

1 paper

NM_000179.3

p.E52D

c.156G>C

1 paper

NM_000179.3

p.E52fs

c.154_155fs

1 paper

NM_000179.3

p.S51S

c.153C>T

2 papers

NM_000179.3

p.A53T

c.157G>A

1 paper

NM_000179.3

p.P55_P57ins1

c.165_170dup6

1 paper

NM_000179.3

p.A53S

c.157G>T

1 paper

NM_000179.3

p.A53fs

c.157_158fs

4 papers

NM_000179.3

p.A53D

c.158C>A