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.G1186Splc

c.3556+1G>A

Surrounding Variants

6 papers

NM_000179.3

p.G1186Splc

c.3556+1G>T

1 paper

NM_000179.3

p.G1186Splc

c.3556+2T>C

1 paper

NM_000179.3

p.S1185A

c.3553T>G

1 paper

NM_000179.3

p.M1184I

c.3552G>A

1 paper

NM_000179.3

p.M1184I

c.3552G>C

1 paper

NM_000179.3

p.M1184I

c.3552G>T

1 paper

NM_000179.3

p.G1186Splc

c.3556+6T>G

1 paper

NM_000179.3

p.M1184K

c.3551T>A

1 paper

NM_000179.3

p.M1184T

c.3551T>C

1 paper

NM_000179.3

p.M1184delFs

c.3552delG

1 paper

NM_000179.3

p.M1184fs

c.3550_3551fs

1 paper

NM_000179.3

p.I1183K

c.3548T>A