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.S714insFs

c.2142dupT

Surrounding Variants

3 papers

NM_000179.3

p.S714C

c.2141C>G

5 papers

NM_000179.3

p.T716delFs

c.2147_2148delCA

1 paper

NM_000179.3

p.D715delFs

c.2145delC

1 paper

NM_000179.3

p.D713fs

c.2137_2138fs

1 paper

NM_000179.3

p.D713Y

c.2137G>T

2 papers

NM_000179.3

p.D713fs

c.2137_2138fs

5 papers

NM_000179.3

p.T716fs

c.2146_2147fs

4 papers

NM_000179.3

p.T716A

c.2146A>G

2 papers

NM_000179.3

p.T716fs

c.2146_2147fs

24 papers

NM_000179.3

p.V717_S718delFs

c.2150_2153del4

1 paper

NM_000179.3

p.V717_T719delFs

c.2149_2155del7

1 paper

NM_000179.3

p.L712F

c.2136G>C