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.P2842L

c.8525C>T

Surrounding Variants

4 papers

NM_000051.4

p.P2842R

c.8525C>G

1 paper

NM_000051.4

p.P2842T

c.8524C>A

6 papers

NM_000051.4

p.P2842S

c.8524C>T

1 paper

NM_000051.4

p.P2842delFs

c.8525delC

1 paper

NM_000051.4

p.D2841V

c.8522A>T

1 paper

NM_000051.4

p.A2843V

c.8528C>T

1 paper

NM_000051.4

p.D2841H

c.8521G>C

3 papers

NM_000051.4

p.D2841Y

c.8521G>T

1 paper

NM_000051.4

p.I2844delFs

c.8530delA

5 papers

NM_000051.4

p.I2844V

c.8530A>G

4 papers

NM_000051.4

p.L2840F

c.8520G>C

4 papers

NM_000051.4

p.L2840F

c.8520G>T