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.E484_M491insFs

c.1450_1472dup23

Surrounding Variants

3 papers

NM_000179.3

p.V483V

c.1449G>T

1 paper

NM_000179.3

p.V483_T488Fs

c.1449_1462delinsAGCFs

5 papers

NM_000179.3

p.E484K

c.1450G>A

1 paper

NM_000179.3

p.E484Q

c.1450G>C

1 paper

NM_000179.3

p.E484fs

c.1450_1451fs

1 paper

NM_000179.3

p.E484*

c.1450G>T

1 paper

NM_000179.3

p.E484delFs

c.1451delA

1 paper

NM_000179.3

p.V483_E487delFs

c.1449_1459del11

1 paper

NM_000179.3

p.E484_Q485delFs

c.1452_1455del4

2 papers

NM_000179.3

p.V483L

c.1447G>T

1 paper

NM_000179.3

p.E484E

c.1452A>G

1 paper

NM_000179.3

p.Q485_T486del2

c.1453_1457del6