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.R243_Q244delFs

c.729_730delCC

Surrounding Variants

7 papers

NM_000179.3

p.R243H

c.728G>A

9 papers

NM_000179.3

p.R243C

c.727C>T

1 paper

NM_000179.3

p.Q244E

c.730C>G

6 papers

NM_000179.3

p.Q244*

c.730C>T

1 paper

NM_000179.3

p.Q244delFs

c.731_732delAA

2 papers

NM_000179.3

p.Q244R

c.731A>G

1 paper

NM_000179.3

p.S242insFs

c.725_726insA

1 paper

NM_000179.3

p.S242_R243delFs

c.726_727delCC

1 paper

NM_000179.3

p.S242fs

c.724_725fs

1 paper

NM_000179.3

p.S242G

c.724A>G

5 papers

NM_000179.3

p.I245fs

c.733_734fs

3 papers

NM_000179.3

p.I245L

c.733A>C