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

3 papers

NM_000179.3

p.F1323S

c.3968T>C

Surrounding Variants

2 papers

NM_000179.3

p.F1323insFs

c.3968_3969ins14

1 paper

NM_000179.3

p.E1324_N1327delFs

c.3972_3979del8

4 papers

NM_000179.3

p.F1323_N1327delFs

c.3969_3979del11

2 papers

NM_000179.3

p.F1323fs

c.3967_3968fs

1 paper

NM_000179.3

p.F1323_E1324ins4

c.3967_3971ins12

3 papers

NM_000179.3

p.F1323fs

c.3967_3968fs

2 papers

NM_000179.3

p.E1322D

c.3966A>C

2 papers

NM_000179.3

p.E1322D

c.3966A>T

1 paper

NM_000179.3

p.E1324Q

c.3970G>C

2 papers

NM_000179.3

p.E1324fs

c.3970_3971fs

1 paper

NM_000179.3

p.E1324fs

c.3970_3971fs

4 papers

NM_000179.3

p.K1325_M1326del1

c.3974_3976delAGA