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.Q4insFs

c.10dupC

Surrounding Variants

1 paper

NM_000179.3

p.R3_Q4insFs

c.9_10ins4

1 paper

NM_000179.3

p.R3R

c.9A>C

1 paper

NM_000179.3

p.Q4insFs

c.11_12ins5

1 paper

NM_000179.3

p.Q4E

c.10C>G

28 papers

NM_000179.3

p.Q4*

c.10C>T

1 paper

NM_000179.3

p.R3P

c.8G>C

1 paper

NM_000179.3

p.R3insFs

c.9dupA

1 paper

NM_000179.3

p.R3L

c.8G>T

1 paper

NM_000179.3

p.Q4R

c.11A>G

1 paper

NM_000179.3

p.Q4L

c.11A>T

1 paper

NM_000179.3

p.Q4_S5delFs

c.12_15del4

1 paper

NM_000179.3

p.R3delins

c.8delinsCATTATTGTCAGG