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.G1069R

c.3205G>A

Surrounding Variants

5 papers

NM_000179.3

p.G1069R

c.3205G>C

1 paper

NM_000179.3

p.G1070delFs

c.3209delG

4 papers

NM_000179.3

p.G1069E

c.3206G>A

9 papers

NM_000179.3

p.R1068Q

c.3203G>A

2 papers

NM_000179.3

p.R1068G

c.3202C>G

39 papers

NM_000179.3

p.R1068*

c.3202C>T

1 paper

NM_000179.3

p.G1070S

c.3208G>A

1 paper

NM_000179.3

p.G1070C

c.3208G>T

1 paper

NM_000179.3

p.G1070fs

c.3208_3209fs

1 paper

NM_000179.3

p.D1071_G1072ins0

c.3212_3214dupATG

1 paper

NM_000179.3

p.S1067_R1068insFs

c.3201_3202insA

1 paper

NM_000179.3

p.S1067N

c.3200G>A