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

2 papers

NM_000179.3

p.V1173M

c.3517G>A

Surrounding Variants

1 paper

NM_000179.3

p.F1174insFs

c.3522dupT

1 paper

NM_000179.3

p.R1172I

c.3515G>T

1 paper

NM_000179.3

p.F1174delFs

c.3522delT

15 papers

NM_000179.3

p.R1172fs

c.3514_3515fs

1 paper

NM_000179.3

p.R1172insFs

c.3514_3515insT

1 paper

NM_000179.3

p.R1172*

c.3514A>T

23 papers

NM_000179.3

p.R1172fs

c.3514_3515fs

2 papers

NM_000179.3

p.R1172_V1173delFs

c.3516_3519del4

1 paper

NM_000179.3

p.F1174L

c.3520T>C

1 paper

NM_000179.3

p.F1174fs

c.3520_3521fs

1 paper

NM_000179.3

p.F1174C

c.3521T>G

43 papers

NM_000179.3

p.R1172insFs

c.3514dupA