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.L2490R

c.7469T>G

Surrounding Variants

1 paper

NM_000051.4

p.L2490fs

c.7468_7469fs

1 paper

NM_000051.4

p.L2490insFs

c.7469dupT

13 papers

NM_000051.4

p.L2490F

c.7468C>T

3 papers

NM_000051.4

p.S2489S

c.7467C>T

5 papers

NM_000051.4

p.W2491R

c.7471T>A

5 papers

NM_000051.4

p.W2491R

c.7471T>C

1 paper

NM_000051.4

p.W2491G

c.7471T>G

1 paper

NM_000051.4

p.W2491fs

c.7471_7472fs

1 paper

NM_000051.4

p.S2489Y

c.7466C>A

2 papers

NM_000051.4

p.S2489C

c.7466C>G

11 papers

NM_000051.4

p.S2489F

c.7466C>T

4 papers

NM_000051.4

p.W2491*

c.7472G>A