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

2 papers

NM_000051.4

p.S2242*

c.6725C>A

Surrounding Variants

1 paper

NM_000051.4

p.S2242_Q2243insFs

c.6726_6727insA

2 papers

NM_000051.4

p.S2242*

c.6725C>G

2 papers

NM_000051.4

p.S2242delFs

c.6725delC

1 paper

NM_000051.4

p.S2242fs

c.6724_6725fs

1 paper

NM_000051.4

p.Q2243K

c.6727C>A

2 papers

NM_000051.4

p.R2244insFs

c.6730dupA

1 paper

NM_000051.4

p.Q2243*

c.6727C>T

3 papers

NM_000051.4

p.Q2243_R2244delFs

c.6729_6730delAA

3 papers

NM_000051.4

p.N2241T

c.6722A>C

3 papers

NM_000051.4

p.N2241S

c.6722A>G

2 papers

NM_000051.4

p.Q2243R

c.6728A>G

1 paper

NM_000051.4

p.R2244fs

c.6730_6731fs