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.H2111H

c.6333T>C

Surrounding Variants

4 papers

NM_000051.4

p.H2111R

c.6332A>G

1 paper

NM_000051.4

p.C2112Y

c.6335G>A

1 paper

NM_000051.4

p.D2110E

c.6330C>A

1 paper

NM_000051.4

p.D2110E

c.6330C>G

1 paper

NM_000051.4

p.D2110D

c.6330C>T

3 papers

NM_000051.4

p.T2113del1

c.6337_6338delACT

1 paper

NM_000051.4

p.T2113P

c.6337A>C

3 papers

NM_000051.4

p.D2110G

c.6329A>G

3 papers

NM_000051.4

p.T2113A

c.6337A>G

5 papers

NM_000051.4

p.T2113S

c.6337A>T

5 papers

NM_000051.4

p.T2113S

c.6338C>G

1 paper

NM_000051.4

p.D2110fs

c.6328_6329fs