Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000051.4

p.S2174R

c.6522C>A

Surrounding Variants

1 paper

NM_000051.4

p.S2174R

c.6522C>G

3 papers

NM_000051.4

p.S2174S

c.6522C>T

1 paper

NM_000051.4

p.L2176_A2178insFs

c.6526_6532dup7

2 papers

NM_000051.4

p.S2174fs

c.6520_6521fs

1 paper

NM_000051.4

p.S2174R

c.6520A>C

2 papers

NM_000051.4

p.L2176delFs

c.6527delT

1 paper

NM_000051.4

p.S2174_R2175del1

c.6522_6524delCAG

1 paper

NM_000051.4

p.L2173H

c.6518T>A

1 paper

NM_000051.4

p.L2173R

c.6518T>G

1 paper

NM_000051.4

p.L2176fs

c.6526_6527fs

2 papers

NM_000051.4

p.L2176fs

c.6526_6527fs

1 paper

NM_000051.4

p.L2173F

c.6517C>T